{
    "disease_id": "DOID:0050880",
    "recommended_name": {
        "id": "DOID:0050880",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050880",
        "name": "Koolen de Vries syndrome",
        "description": "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "17q21.31 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "KANSL1-related intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "KdVS",
            "description": ""
        },
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "Koolen-De Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen-de Vries syndrome",
            "description": "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior."
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "KANSL1-related intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "KDVS",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "KdVS",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen de Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen-De Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "chromosome 17q21.31 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "microdeletion 17q21.31 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "17q21.31 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen-DE Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "chromosome 17q21.31 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MIM:610443",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610443",
            "name": "Koolen-De Vries syndrome",
            "description": "Koolen-De Vries syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050880"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050880",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "categories": []
        },
        {
            "id": "MONDO:0012496",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "categories": []
        },
        {
            "id": "MIM:610443",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610443",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TF07-1",
            "uniprot_ac": "A0A8N7TF07",
            "uniprot_id": "A0A8N7TF07_DANRE",
            "refseq_ac": "XP_692939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kansl1a",
                    "type": "recommended"
                },
                {
                    "name": "kansl1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TF07-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QUH6-1",
            "uniprot_ac": "F1QUH6",
            "uniprot_id": "F1QUH6_DANRE",
            "refseq_ac": "XP_068074992",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kansl1b",
                    "type": "recommended"
                },
                {
                    "name": "kansl1b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QUH6-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TG1-1",
            "uniprot_ac": "Q80TG1",
            "uniprot_id": "KANL1_MOUSE",
            "refseq_ac": "NP_001074514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NSL complex protein NSL1",
                    "type": "synonym"
                },
                {
                    "name": "Non-specific lethal 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-specific lethal 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kansl1",
                    "type": "recommended"
                },
                {
                    "name": "1700081L11Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430041J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kansl1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1267",
                    "type": "synonym"
                },
                {
                    "name": "Nsl1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1267",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80TG1-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5DTI6-1",
            "uniprot_ac": "Q5DTI6",
            "uniprot_id": "KAL1L_MOUSE",
            "refseq_ac": "NP_001116210",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kansl1l",
                    "type": "recommended"
                },
                {
                    "name": "1110028C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "1190030G24",
                    "type": "synonym"
                },
                {
                    "name": "C430010P07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kansl1l",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4189",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4189",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5DTI6-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z3B3-1",
            "uniprot_ac": "Q7Z3B3",
            "uniprot_id": "KANL1_HUMAN",
            "refseq_ac": "NP_001180394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "MLL1/MLL complex subunit KANSL1",
                    "type": "synonym"
                },
                {
                    "name": "MSL1 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "NSL complex protein NSL1",
                    "type": "synonym"
                },
                {
                    "name": "Non-specific lethal 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein 36",
                    "type": "synonym"
                },
                {
                    "name": "hMSL1v1",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-specific lethal 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KANSL1",
                    "type": "recommended"
                },
                {
                    "name": "C17DELq21.31",
                    "type": "synonym"
                },
                {
                    "name": "CENP-36",
                    "type": "synonym"
                },
                {
                    "name": "DEL17Q21.31",
                    "type": "synonym"
                },
                {
                    "name": "KANSL1",
                    "type": "synonym"
                },
                {
                    "name": "KDVS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1267",
                    "type": "synonym"
                },
                {
                    "name": "MSL1V1",
                    "type": "synonym"
                },
                {
                    "name": "MSL1v1",
                    "type": "synonym"
                },
                {
                    "name": "NSL1",
                    "type": "synonym"
                },
                {
                    "name": "hMSL1v1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z3B3-1",
            "evidence": [
                {
                    "id": "610443",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610443"
                },
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AJF7-1",
            "uniprot_ac": "A0A8I6AJF7",
            "uniprot_id": "A0A8I6AJF7_RAT",
            "refseq_ac": "NP_001414656",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kansl1",
                    "type": "recommended"
                },
                {
                    "name": "Kansl1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311429",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AJF7-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZY7-1",
            "uniprot_ac": "D3ZZY7",
            "uniprot_id": "D3ZZY7_RAT",
            "refseq_ac": "NP_001418261",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kansl1l",
                    "type": "recommended"
                },
                {
                    "name": "Kansl1l",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZY7-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E2QD16-1",
            "uniprot_ac": "E2QD16",
            "uniprot_id": "E2QD16_DROME",
            "refseq_ac": "NP_732069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4699-PM",
                    "type": "synonym"
                },
                {
                    "name": "Non-specific lethal 1, isoform M",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 06536",
                    "type": "synonym"
                },
                {
                    "name": "non-specific lethal 1, isoform M",
                    "type": "synonym"
                },
                {
                    "name": "nonspecific lethal 1",
                    "type": "synonym"
                },
                {
                    "name": "nsl1-PM",
                    "type": "synonym"
                },
                {
                    "name": "waharan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nsl1",
                    "type": "recommended"
                },
                {
                    "name": "CG4699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4699",
                    "type": "synonym"
                },
                {
                    "name": "E(nos)",
                    "type": "synonym"
                },
                {
                    "name": "NSL1",
                    "type": "synonym"
                },
                {
                    "name": "Nsl1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06536",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S009413",
                    "type": "synonym"
                },
                {
                    "name": "nsl1",
                    "type": "synonym"
                },
                {
                    "name": "wah",
                    "type": "synonym"
                }
            ],
            "record_id": "E2QD16-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AUZ9-1",
            "uniprot_ac": "A0AUZ9",
            "uniprot_id": "KAL1L_HUMAN",
            "refseq_ac": "NP_001294905",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "KAT8 regulatory NSL complex subunit 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1267-like",
                    "type": "synonym"
                },
                {
                    "name": "MSL1v2",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KANSL1L",
                    "type": "recommended"
                },
                {
                    "name": "C2orf67",
                    "type": "synonym"
                },
                {
                    "name": "KANSL1L",
                    "type": "synonym"
                },
                {
                    "name": "MSL1v2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AUZ9-1",
            "evidence": [
                {
                    "id": "0050880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050880"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050880"
}